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Human mutation

Showing results (301-310 of 6,541) with videos related to

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Human Mutation|October 6, 2005
Expression of NF1 pseudogenesHaijing Yu, Xiangyi Zhao, Bing Su, et al.
Human Mutation|September 1, 2005
Linear allele-specific long-range amplification: a novel method of long-range molecular haplotypingWei-Ming Wu, Hsiang-Ju Tsai, Jong-Hwei S Pang, et al.
Human Mutation|September 1, 2005
The human TBX5 gene mutation databaseWolfram Heinritz, Lin Shou, Andre Moschik, et al.
Human Mutation|September 1, 2005
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblingsMaria Cristina Vigone, Laura Fugazzola, Ilaria Zamproni, et al.
Human Mutation|September 1, 2006
The IMGT/HLA and IPD databasesJames Robinson, Matthew J Waller, Sylvie C Fail, et al.
Human Mutation|August 29, 2006
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicingEva Pros, Sara Larriba, Eva López, et al.
Human Mutation|September 8, 2006
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanismsAlla D Lyfenko, Sylvie Ducreux, Ying Wang, et al.
Human Mutation|March 22, 2006
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotidesFrancesco Vetrini, Roberta Tammaro, Sergio Bondanza, et al.
Human Mutation|March 22, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromesDominique Audenaert, Christine Van Broeckhoven, Peter De Jonghe
Human Mutation|June 21, 2006
Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locusSushma S Thomas, Shuying S Li, Johanna W Lampe, et al.
Pageof 655

Showing results (301-310 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|October 6, 2005
Expression of NF1 pseudogenesHaijing Yu, Xiangyi Zhao, Bing Su, et al.
Human Mutation|September 1, 2005
Linear allele-specific long-range amplification: a novel method of long-range molecular haplotypingWei-Ming Wu, Hsiang-Ju Tsai, Jong-Hwei S Pang, et al.
Human Mutation|September 1, 2005
The human TBX5 gene mutation databaseWolfram Heinritz, Lin Shou, Andre Moschik, et al.
Human Mutation|September 1, 2005
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblingsMaria Cristina Vigone, Laura Fugazzola, Ilaria Zamproni, et al.
Human Mutation|September 1, 2006
The IMGT/HLA and IPD databasesJames Robinson, Matthew J Waller, Sylvie C Fail, et al.
Human Mutation|August 29, 2006
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicingEva Pros, Sara Larriba, Eva López, et al.
Human Mutation|September 8, 2006
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanismsAlla D Lyfenko, Sylvie Ducreux, Ying Wang, et al.
Human Mutation|March 22, 2006
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotidesFrancesco Vetrini, Roberta Tammaro, Sergio Bondanza, et al.
Human Mutation|March 22, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromesDominique Audenaert, Christine Van Broeckhoven, Peter De Jonghe
Human Mutation|June 21, 2006
Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locusSushma S Thomas, Shuying S Li, Johanna W Lampe, et al.
Pageof 655